Increasing evidence that genetic variation in Complement factor H related 5 (CFHR5) causes disease: A commentary on Atypical haemolytic uremic syndrome and genetic aberrations in the complement factor-H-related 5 gene

摘要

The complement pathway was first recognised over a century ago in 1890. It is composed of a cascade of proteins and is one of the major arms of our innate immune defence system.1 Complement activation can be initiated by a number of different events, which include direct activation by microorganisms (the alternate pathway) and by antibody binding to antigen (the classical pathway). A striking feature is the potential for massive amplification, which is regulated by intricate control mechanisms. Activation of the complement pathway has been implicated in self-injury in a very diverse range of disease processes, with examples including ischaemic tissue injury, age-related macular degeneration and neurodegeneration.